Hypophosphatemic Rickets: A Targeted Literature Review to Characterize the Multiple Causes of Phosphate Wasting Disorders and Identify Potential Disease Biomarkers

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O'Mara, Christopher
Protein characterization; Proteomics; von Willebrand Factor; FPLC; digestion assay; ADAMTS13; Bioinformatics; Biology; Cellular and Molecular Physiology; Molecular Biology; Molecular Genetics
thesis / dissertation description
Hypophosphatemic rickets is a rare, renal phosphate wasting disorder that presents various skeletal deformities. Although there are specific clinical presentations and biochemical findings used to identify hypophosphatemic rickets, there are various underlying renal phosphate wasting disorders that can lead to hypophosphatemic rickets making diagnosis extremely difficult. A targeted literature review through electronic search engines (e.g., BMC, PubMed, Google Scholar) was conducted to: 1) consolidate and summarize currently available data regarding the various renal phosphate wasting disorders, 2) identify current obstacles of successful diagnosis and treatment, and 3) propose directions for future hypophosphatemic rickets research into new biomarkers.